Differences between individual human genomes, or between human and cancer genomes, range in scale from single nucleotide variants (SNVs) through intermediate and large-scale duplications, deletions, and rearrangements of genomic segments. The latter class, called structural variants (SVs), have received considerable attention in the past several years as they are a previously under appreciated source of variation in human genomes. Much of this recent attention is the result of the availability of higher-resolution technologies for measuring these variants, including both microarray-based techniques, and more recently, high-throughput DNA sequencing. We describe the genomic technologies and computational techniques currently used to measure SVs, focusing on applications in human and cancer genomics. © 2012 Benjamin J.
CITATION STYLE
Raphael, B. J. (2012). Chapter 6: Structural Variation and Medical Genomics. PLoS Computational Biology, 8(12). https://doi.org/10.1371/journal.pcbi.1002821
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